ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic for Spondyloepimetaphyseal dysplasia, Strudwick type

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) rs2136575653
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) rs121912881
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) rs121912875
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) rs121912895
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) rs2136514291
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505

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